Usher syndrome as the most frequent cause of coexisting sight and hearing disorders genetically determined
Journal Title: Polski Przegląd Otorynolaryngologiczny - Year 2016, Vol 5, Issue 1
Abstract
Usher syndrome is the most frequent cause of coexisting sight and hearing disorders genetically determined. Depending on the type of the symptoms, we can single out 3 types of Usher syndrome. Among them the most ad-vanced changes are described in first type. In final stage it leads to deafness and blindness with possible balance dis-orders.This syndome is inherited in autosomal recessive way, but we have to note the occurence of genetical heterogeneity. It causes big diversity of symptoms intensification. Correct diagnosis is important in view of giving genetical advice and eventual diagnostic and terapeutic procedure.
Authors and Affiliations
Barbara Jamróz, Maria Pabian, Magdalena Lachowska,, Kazimierz Niemczyk
Keywords
Related Articles
- EP ID EP187131
- DOI -
- Views 156
- Downloads 0
Urazy ucha środkowego
Head trauma belong to the most common body’s injury in the modern era. Most of them are connected with the middle ear trauma. Thence such patients suffer from hearing loss, vertigo, facial palsy and cerebellar flid leak....
Remarks on qualification of patients for cochlear implantation
Over thirty years of progress in development of surgical techniques and cochlear implant technology led to a change in approach and extending of indications for qualifying patients to treatment of sensorineural hearing l...
Foreign body in nasopharynx – case report
Patients with foreign bodies in various locations often present to ENT emergency units. In the oropharynx, fishbone is the most common foreign body. In most cases, the foreign body cannot be found despite pain reported...
The value of the exfoliative cytology to the diagnosis of oral hairy leukoplakia - Case report
Oral hairy leukoplakia is a lesion that generally occurs in tongue. It is characterized as a white patch in the side of the tongue with a corrugated or hairy appearance. The OHL affects patients with HIV infection and ha...
Antibiotic therapy of acute upper respiratory tract infections and otitis media in adults
An estimated 50% of antibiotic prescriptions may be unjustified in the outpatient setting. Viruses are responsible for most acute respiratory tract infections. The viral infections are often self-limiting and only sympto...